Call 1-800-473-9411 to speak with our team of laboratory genetic counselors for questions or additional information.
Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC
This test measures organic acid in urine, and can be used as a general biochemical screen to detect a variety of inborn errors of metabolism. Organic acids play a role in many metabolic processes within the cell. In certain genetic disorders, abnormal concentrations of organic acids may be present in blood or other body fluids. Organic acid analysis is typically performed on urine, as many of the abnormal compounds are not detectable in other tissues.
Disturbances of organic acid metabolism may be suspected in infants or children with feeding difficulties, failure to thrive, growth delay, developmental delay, seizures, unusual body odor, hypotonia and/or hyperammonemia.
Urine organic acid analysis is general biochemical screen used to detect a variety of inborn errors of metabolism.
Gas chromatography/mass spectrometry (GC/MS)
Urine: A minimum of 7 mL random catch urine
Urine: Specimen should be frozen after collection and shipped frozen, preferably on dry ice
Call 1-800-473-9411 to speak with our team of laboratory genetic counselors for questions or additional information.
Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC